At five-years-old, Jayden Skidmore, 11, was diagnosed with Duchenne’s muscular dystrophy – a condition that weakens the skeletal and heart muscles.
And by the age of seven, he could no longer walk due to muscle weakness in his legs. While the life expectancy for a child with this condition is 22 years, his mum, Jade, and stepdad, Sean, worry he won’t make it to 20.
Jade cares for her son full-time and explained she had a ‘normal’ pregnancy and thought everything was fine when he hit early milestones like crawling and walking.
But looking back, she thinks he started having problems with his motor skills between the ages of three and five.
Jayden was diagnosed at 5. (SWNS)
“He couldn’t walk properly,” the mum said. “When he got to four, he just kept falling over, all the time. We were so worried.”
The couple decided to take Jayden to see a child development specialist, with the results of a blood test in September 2018 finding his creatine levels were at 1600 units-per-litre.
It was explained the normal level was supposed to be in the ‘hundreds’. Along with his symptoms, it was enough to diagnose the youngster with Duchenne’s muscular dystrophy.
READ MORE:
DAD'S 'JUST FOR FUN' DNA TEST REVEALS HEARTBREAKING TRUTH
GATEN MATARAZZO'S RARE CONDITION WAS WRITTEN INTO STRANGER THINGS
That same month, Jade had a genetic blood test, which confirmed she’d unknowingly passed down the gene to her son.
“I just thought it was my fault,” she said. “I really blamed myself.
“But it is what it is - there’s no way we could’ve known.”
No longer able to walk, Jayden takes daily steroids for his muscles, and heart medication for his weakened cardiovascular system. He’s been given a decade left to live and has been told he might have significant heart problems as he does get older.
“He couldn’t walk properly,” the mum said. “When he got to four, he just kept falling over, all the time. We were so worried.”
The couple decided to take Jayden to see a child development specialist, with the results of a blood test in September 2018 finding his creatine levels were at 1600 units-per-litre.
It was explained the normal level was supposed to be in the ‘hundreds’. Along with his symptoms, it was enough to diagnose the youngster with Duchenne’s muscular dystrophy.
READ MORE:
DAD'S 'JUST FOR FUN' DNA TEST REVEALS HEARTBREAKING TRUTH
GATEN MATARAZZO'S RARE CONDITION WAS WRITTEN INTO STRANGER THINGS
That same month, Jade had a genetic blood test, which confirmed she’d unknowingly passed down the gene to her son.
“I just thought it was my fault,” she said. “I really blamed myself.
“But it is what it is - there’s no way we could’ve known.”
No longer able to walk, Jayden takes daily steroids for his muscles, and heart medication for his weakened cardiovascular system. He’s been given a decade left to live and has been told he might have significant heart problems as he does get older.
The family hope to take him to Florida. (SWNS)
“Deterioration usually starts with the legs, then travels up the body,” Jade added.
“We’ve been told he could go at any age.”
The family are now hoping to take Jayden on a ‘trip of a lifetime’ to Florida in the states, where they hope he can also meet his hero, Dwayne ‘The Rock’ Johnson.
Sean is taking on one of the ‘world’s toughest challenges’ (involving rock climbing, swimming and sprinting) to help raise funds.
“Time is of the essence - we want Jayden to live the best life he can, while he’s still here,” he said.
With Sean preparing for the ‘extremely demanding’ physical challenge to fundraise for the big trip, the young lad is a ‘huge motivator’ for him.
The family are hoping to take him swimming with dolphins as well as scuba diving and adapted rock climbing in Florida. But meeting the Rock really is the big hope.
Sean said: “It only takes one person in his circle to flag it up to him.
“I just want to get the word out there, as much as possible. Jayden may not be around for much longer, and I know this would be his dream.”Featured Image Credit: SWNS
Published 12:46 8 Feb 2024 GMT
Baby born with no eyes due to rare condition that only affects 30 people in the world
It's not known exactly what causes the rare eye condition
A baby was born with no eyes due to a rare condition that is only known to affect 30 people in the world.
Wrenley Ice was born on 6 November last year in Missouri and her parents quickly realised something wasn’t quite right when she didn’t open her eyes.
Her mum Taylor had struggled with fertility for over a year before she became pregnant with her daughter.
The parents say that through the whole pregnancy they were told by doctors their baby was perfectly healthy.
Yet, Taylor told local news station KFVS 12 that she noticed she ‘wasn’t opening her eyes’ when she was born and immediately asked the nurse.
“She told me ‘well, in the womb, it’s dark, so they don’t normally open their eyes right away’.”
But the little girl’s eyes never opened. Taylor recalled: “The paediatrician’s going over the baby, and he just stops with his examination and looks up at us and says, 'Your daughter doesn’t have any eyes.’
“I just looked at him and said, ‘Do you mean they’re small?’ He goes, ‘No, they aren’t there.’
“I just burst into tears because I just couldn’t fully process what that meant at the time.”
KFVS12
Nine days after the family drove 150 miles to St Louis Children’s Hospital (on the same day Taylor had just given birth via C-section), doctors determined that the little girl was born with anophthalmia – the name for the condition when a baby is born without one or both of their eyes.
An extremely rare condition, doctors don’t widely know what causes it.
According to the National Eye Institute, it can be caused by changes in genes, taking certain medicines during pregnancy and coming into contact with harmful things in the environment.
Doctors found that Wrenley doesn’t produce cortisol (a stress hormone produced by the adrenal glands).
GoFundMe
Genetic testing showed that she had a condition known as hyploinsufficiency of the PRR-12 gene and this therefore led to her eyes not developing while in the womb.
Taylor said: “I couldn't believe that something like that happened to us.”
Dr Nate Jensen, a geneticist at St Louis Children's Hospital, told KFVS 12: “This is an incredibly rare condition."
He said although Taylor’s pregnancy was normal, the parents could have passed on gene mutations without releasing, and there’s a 50 percent chance Wrenley could pass it on to her future kids.
“There’s nothing Wrenley’s mother or father did to cause this,” Dr Jensen said. “There’s nothing either could’ve done to prevent it - it’s totally random.”
No treatment can give the little girl working eyes, but the doctors look to give her prosthetics so she can live a more normal life.Featured Image Credit: KFVS 12/GoFundMe
Updated 14:57 29 Nov 2023 GMTPublished 14:55 29 Nov 2023 GMT
Man who couldn’t eat food for two years due to rare condition still faces daily struggles
He began to notice something was wrong in 2017 when he ‘suddenly’ started to experience difficulty swallowing while eating
A man with a rare condition that left him unable to eat has opened up about the struggles he has faced.
Liam Findley first began to notice something was wrong in 2017 when he ‘suddenly’ started to experience difficulty swallowing while eating, although it began with just food - the condition worsened to the point that even drinking water became difficult.
He told LADbible: “It came along unexpectedly in 2017. I normally ate - I enjoyed eating - but then suddenly, my food pipe became like a blocked drain.
“It came on suddenly, but it got worse gradually. I could swallow normally with some difficulty at first, but then thicker things - like chips or bread - I couldn’t have anymore and then eventually it was everything down to water.
“Deterioration usually starts with the legs, then travels up the body,” Jade added.
“We’ve been told he could go at any age.”
The family are now hoping to take Jayden on a ‘trip of a lifetime’ to Florida in the states, where they hope he can also meet his hero, Dwayne ‘The Rock’ Johnson.
Sean is taking on one of the ‘world’s toughest challenges’ (involving rock climbing, swimming and sprinting) to help raise funds.
“Time is of the essence - we want Jayden to live the best life he can, while he’s still here,” he said.
With Sean preparing for the ‘extremely demanding’ physical challenge to fundraise for the big trip, the young lad is a ‘huge motivator’ for him.
The family are hoping to take him swimming with dolphins as well as scuba diving and adapted rock climbing in Florida. But meeting the Rock really is the big hope.
Sean said: “It only takes one person in his circle to flag it up to him.
“I just want to get the word out there, as much as possible. Jayden may not be around for much longer, and I know this would be his dream.”Featured Image Credit: SWNS
Published 12:46 8 Feb 2024 GMT
Baby born with no eyes due to rare condition that only affects 30 people in the world
It's not known exactly what causes the rare eye condition
A baby was born with no eyes due to a rare condition that is only known to affect 30 people in the world.
Wrenley Ice was born on 6 November last year in Missouri and her parents quickly realised something wasn’t quite right when she didn’t open her eyes.
Her mum Taylor had struggled with fertility for over a year before she became pregnant with her daughter.
The parents say that through the whole pregnancy they were told by doctors their baby was perfectly healthy.
Yet, Taylor told local news station KFVS 12 that she noticed she ‘wasn’t opening her eyes’ when she was born and immediately asked the nurse.
“She told me ‘well, in the womb, it’s dark, so they don’t normally open their eyes right away’.”
But the little girl’s eyes never opened. Taylor recalled: “The paediatrician’s going over the baby, and he just stops with his examination and looks up at us and says, 'Your daughter doesn’t have any eyes.’
“I just looked at him and said, ‘Do you mean they’re small?’ He goes, ‘No, they aren’t there.’
“I just burst into tears because I just couldn’t fully process what that meant at the time.”
KFVS12Nine days after the family drove 150 miles to St Louis Children’s Hospital (on the same day Taylor had just given birth via C-section), doctors determined that the little girl was born with anophthalmia – the name for the condition when a baby is born without one or both of their eyes.
An extremely rare condition, doctors don’t widely know what causes it.
According to the National Eye Institute, it can be caused by changes in genes, taking certain medicines during pregnancy and coming into contact with harmful things in the environment.
Doctors found that Wrenley doesn’t produce cortisol (a stress hormone produced by the adrenal glands).
GoFundMeGenetic testing showed that she had a condition known as hyploinsufficiency of the PRR-12 gene and this therefore led to her eyes not developing while in the womb.
Taylor said: “I couldn't believe that something like that happened to us.”
Dr Nate Jensen, a geneticist at St Louis Children's Hospital, told KFVS 12: “This is an incredibly rare condition."
He said although Taylor’s pregnancy was normal, the parents could have passed on gene mutations without releasing, and there’s a 50 percent chance Wrenley could pass it on to her future kids.
“There’s nothing Wrenley’s mother or father did to cause this,” Dr Jensen said. “There’s nothing either could’ve done to prevent it - it’s totally random.”
No treatment can give the little girl working eyes, but the doctors look to give her prosthetics so she can live a more normal life.Featured Image Credit: KFVS 12/GoFundMe
Updated 14:57 29 Nov 2023 GMTPublished 14:55 29 Nov 2023 GMT
Man who couldn’t eat food for two years due to rare condition still faces daily struggles
He began to notice something was wrong in 2017 when he ‘suddenly’ started to experience difficulty swallowing while eating
A man with a rare condition that left him unable to eat has opened up about the struggles he has faced.
Liam Findley first began to notice something was wrong in 2017 when he ‘suddenly’ started to experience difficulty swallowing while eating, although it began with just food - the condition worsened to the point that even drinking water became difficult.
He told LADbible: “It came along unexpectedly in 2017. I normally ate - I enjoyed eating - but then suddenly, my food pipe became like a blocked drain.
“It came on suddenly, but it got worse gradually. I could swallow normally with some difficulty at first, but then thicker things - like chips or bread - I couldn’t have anymore and then eventually it was everything down to water.
LADbible
“I kind of had to resort to living off smoothies and high-fat soup, and when I would have that and water as well only so much would go down, so I ended up losing lots of weight and became quite weak.”
Liam ended up losing around two stone and, with his condition not improving, he visited his GP where he was initially given medication for acid reflux.
But when that didn’t help he had to go to various hospitals for further tests - including having a camera put down his throat on more than one occasion.
“They could see that my food pipe was ballooning up,” he went on. “They could see that the entrance to my stomach was just not opening and my food pipe, normally it would convulse and put down, but it wasn’t doing that.”
Liam was eventually diagnosed with achalasia - a rare disorder of the food pipe (also known as the oesophagus), which can make it difficult to swallow food and drink.
“I kind of had to resort to living off smoothies and high-fat soup, and when I would have that and water as well only so much would go down, so I ended up losing lots of weight and became quite weak.”
Liam ended up losing around two stone and, with his condition not improving, he visited his GP where he was initially given medication for acid reflux.
But when that didn’t help he had to go to various hospitals for further tests - including having a camera put down his throat on more than one occasion.
“They could see that my food pipe was ballooning up,” he went on. “They could see that the entrance to my stomach was just not opening and my food pipe, normally it would convulse and put down, but it wasn’t doing that.”
Liam was eventually diagnosed with achalasia - a rare disorder of the food pipe (also known as the oesophagus), which can make it difficult to swallow food and drink.
Supplied
In Liam’s case, doctors decided to operate and in 2019 he underwent an operation called Heller's Myotomy in which the muscle at the entrance to the stomach is cut allowing food and drink to pass through.
However, even after undergoing the surgery Liam still struggles to eat as normal.
He said. “I can pretty much eat whatever I want as long as I have plenty of water to wash it down. But I avoid thicker foods, because I also get spasms in my stomach. It's like a crushing pain in my stomach, where my nerves are kind of confused and it's just really really painful, it’s like being winded. That happens when I have thicker things that might get stuck in my food pipe, so I still avoid some food.”
Alongside that, Liam has to drink ‘lots and lots’ of water at meal times to get his food down, which presents its own problems.
He went on: “I can’t go for a walk without needing the toilet and I have to have dinner around six o’clock and then have nothing after that or I’ll be up all night needing the toilet.”
In Liam’s case, doctors decided to operate and in 2019 he underwent an operation called Heller's Myotomy in which the muscle at the entrance to the stomach is cut allowing food and drink to pass through.
However, even after undergoing the surgery Liam still struggles to eat as normal.
He said. “I can pretty much eat whatever I want as long as I have plenty of water to wash it down. But I avoid thicker foods, because I also get spasms in my stomach. It's like a crushing pain in my stomach, where my nerves are kind of confused and it's just really really painful, it’s like being winded. That happens when I have thicker things that might get stuck in my food pipe, so I still avoid some food.”
Alongside that, Liam has to drink ‘lots and lots’ of water at meal times to get his food down, which presents its own problems.
He went on: “I can’t go for a walk without needing the toilet and I have to have dinner around six o’clock and then have nothing after that or I’ll be up all night needing the toilet.”
Supplied
And it’s not just having to pee more that has caused an issue for Liam; due to having to knock back so much water, Liam has ended up with water poisoning - or water intoxication - twice, which can be fatal.
Liam explained: “Water intoxication wasn’t something I really anticipated because it had not been mentioned to me and I was drinking two or three, or more litres, per meal.
“It was back in January when I had my first water intoxication incident.
“My fingers were going tingly and I was losing feeling in my feet and hands and it was travelling up through my body. I went pale, I was lightheaded and was wrenching - my body wanted to vomit but because of my surgery I’m not able to vomit - it was a horrible state to be in.
“I rushed off to hospital and they had to give me electrolytes via IV drips to bring my electrolytes back into balance.”
Following his experience, Liam said he was more careful about his water intake, but on a trip to Rome a few months later, amid a heatwave, he once again accidentally drank too much water and had to go to hospital.
Supplied
“It is alarming when it happens,” he said. “Because something as simple as having water, which I need to have food, knowing that that can do me that much harm makes me very wary - especially now having had it twice.”
Liam now keeps strict limits on his water intake, which in turn means he has to eat smaller, more nutrient dense, meals, as he can’t handle eating larger portions.
While still coming to terms with his condition, Liam says he found an outlet in writing and this year published his first children’s book titled The Doom Town Dummies - you can find out more about the book, or buy a copy here.
“I was writing this while I was so weak - at the start of my achalasia - and I found that writing was a nice means of escapism,” he said.
“It was nice to escape through writing. It’s not a conclusion to the journey - but at the point where I can eat again, it’s nice to put this book out and have it as a marker of what I’ve been through.”Featured Image Credit: LADbible/supplied
Baby gets dubbed ‘Mini Hulk’ after rare condition leaves her with huge biceps
Armani's mum was told the baby wouldn't survive but she has beaten the odds and fought to stay alive.
A baby has been given the nickname Mini Hulk after a rare condition gave her humungous biceps.
Nine-month-old Armani Milby was born via emergency C-section at 33 weeks after doctors discovered she had a severe form of lymphangioma.
Lymphangiomas are 'uncommon, benign malformations of the lymphatic system that can occur anywhere on the skin and mucous membranes', according to the National Institute of Health.
It's a rare genetic condition that has seen little Armani have swollen arms and chest and she's now three times the weight of an average baby at her age.
She was so big that some people thought mum Chelsey was having triplets when she was pregnant.
The 33-year-old was told at the 17-week mark that her yet-to-be-born child had the condition.
“I had never, ever, heard of the diagnosis before and honestly, I had looked into it, and I didn’t really like the results with some of the pictures," she said.
“When I found out, to be honest, I was devastated, I was heartbroken.
"I didn’t understand what happened, what went wrong, because I had two other healthy babies, and I cried every day. Every day, I asked God why.
“We never considered an abortion even though it was mentioned to us almost immediately after it was discovered there were some major concerns with our unborn baby, but we just wanted to know how we could help her when she was born.
“They literally gave her a zero percent chance.
And it’s not just having to pee more that has caused an issue for Liam; due to having to knock back so much water, Liam has ended up with water poisoning - or water intoxication - twice, which can be fatal.
Liam explained: “Water intoxication wasn’t something I really anticipated because it had not been mentioned to me and I was drinking two or three, or more litres, per meal.
“It was back in January when I had my first water intoxication incident.
“My fingers were going tingly and I was losing feeling in my feet and hands and it was travelling up through my body. I went pale, I was lightheaded and was wrenching - my body wanted to vomit but because of my surgery I’m not able to vomit - it was a horrible state to be in.
“I rushed off to hospital and they had to give me electrolytes via IV drips to bring my electrolytes back into balance.”
Following his experience, Liam said he was more careful about his water intake, but on a trip to Rome a few months later, amid a heatwave, he once again accidentally drank too much water and had to go to hospital.
Supplied“It is alarming when it happens,” he said. “Because something as simple as having water, which I need to have food, knowing that that can do me that much harm makes me very wary - especially now having had it twice.”
Liam now keeps strict limits on his water intake, which in turn means he has to eat smaller, more nutrient dense, meals, as he can’t handle eating larger portions.
While still coming to terms with his condition, Liam says he found an outlet in writing and this year published his first children’s book titled The Doom Town Dummies - you can find out more about the book, or buy a copy here.
“I was writing this while I was so weak - at the start of my achalasia - and I found that writing was a nice means of escapism,” he said.
“It was nice to escape through writing. It’s not a conclusion to the journey - but at the point where I can eat again, it’s nice to put this book out and have it as a marker of what I’ve been through.”Featured Image Credit: LADbible/supplied
Baby gets dubbed ‘Mini Hulk’ after rare condition leaves her with huge biceps
Armani's mum was told the baby wouldn't survive but she has beaten the odds and fought to stay alive.
A baby has been given the nickname Mini Hulk after a rare condition gave her humungous biceps.
Nine-month-old Armani Milby was born via emergency C-section at 33 weeks after doctors discovered she had a severe form of lymphangioma.
Lymphangiomas are 'uncommon, benign malformations of the lymphatic system that can occur anywhere on the skin and mucous membranes', according to the National Institute of Health.
It's a rare genetic condition that has seen little Armani have swollen arms and chest and she's now three times the weight of an average baby at her age.
She was so big that some people thought mum Chelsey was having triplets when she was pregnant.
The 33-year-old was told at the 17-week mark that her yet-to-be-born child had the condition.
“I had never, ever, heard of the diagnosis before and honestly, I had looked into it, and I didn’t really like the results with some of the pictures," she said.
“When I found out, to be honest, I was devastated, I was heartbroken.
"I didn’t understand what happened, what went wrong, because I had two other healthy babies, and I cried every day. Every day, I asked God why.
“We never considered an abortion even though it was mentioned to us almost immediately after it was discovered there were some major concerns with our unborn baby, but we just wanted to know how we could help her when she was born.
“They literally gave her a zero percent chance.
Caters
"They said she wouldn’t make it and that she probably wouldn’t be crying when she came out."
However, little Armani proved doctors wrong and fought to stay alive.
They moved 100 miles to Cincinnati for three months so the baby could receive specialist care.
Chelsey says her pregnancy journey was fairly rough and she was in pain almost every day.
“That’s why I had them take her at 33 weeks because my body was shutting down and it was getting harder every day to live life and actually breathe because I was so uncomfortable as I had to keep getting fluid drained out of my stomach," she said.
“To everyone's surprise, she came out crying and everybody in the room was emotional. No one knew what was going to happen.
"It’s a very magical story.”
Armani is scheduled for surgery later this year where doctors will extract extra lymphatic vessels from her body that will help her body shrink down to the correct size and over the coming years.
After that, she can undergo surgery to remove the extra skin.
Chelsey said: “She’s doing wonderful. She literally is my miracle baby, and we just love her so much.”
"They said she wouldn’t make it and that she probably wouldn’t be crying when she came out."
However, little Armani proved doctors wrong and fought to stay alive.
They moved 100 miles to Cincinnati for three months so the baby could receive specialist care.
Chelsey says her pregnancy journey was fairly rough and she was in pain almost every day.
“That’s why I had them take her at 33 weeks because my body was shutting down and it was getting harder every day to live life and actually breathe because I was so uncomfortable as I had to keep getting fluid drained out of my stomach," she said.
“To everyone's surprise, she came out crying and everybody in the room was emotional. No one knew what was going to happen.
"It’s a very magical story.”
Armani is scheduled for surgery later this year where doctors will extract extra lymphatic vessels from her body that will help her body shrink down to the correct size and over the coming years.
After that, she can undergo surgery to remove the extra skin.
Chelsey said: “She’s doing wonderful. She literally is my miracle baby, and we just love her so much.”
